ClinVar Miner

Submissions for variant NC_000003.12:g.(?_128486793)_(128487041_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813963 SCV000954350 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2019-01-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). This variant has not been reported in the literature in individuals with GATA2-related disease. This variant is a gross deletion of the genomic region encompassing exon 2 of the GATA2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the GATA2 gene. This is expected to result in an absent or disrupted protein product.

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